B3GALNT2
Chr 1ARbeta-1,3-N-acetylgalactosaminyltransferase 2
Also known as: B3GalNAc-T2, MDDGA11
The protein is a beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure on N- and O-glycans and is specifically involved in alpha-dystroglycan glycosylation, which is required for binding laminin and other extracellular proteins. Biallelic mutations cause congenital muscular dystrophy-dystroglycanopathy type A11, characterized by congenital onset muscular dystrophy with brain and eye anomalies. This condition follows autosomal recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
B3GALNT2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools